Varaico: Literature-Extracted Genetic Variants

Gene:IL10RA
Variant:p.S420L
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IL10RA

NM_001558.4:p.S420L

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.

Sharifinejad N et al.

Clinical and Experimental Immunology, 2022

Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.

Ashton JJ et al.

Clinical and Translational Gastroenterology, 2020

32463623 (PubMed )
Supplement: ct9-11-e00129-s005.docx

Genetic profile of patients with early onset inflammatory bowel disease.

Girardelli M et al.

Gene, 2018

Very early onset inflammatory bowel disease: Investigation of the IL-10 signaling pathway in Iranian children.

Nemati S et al.

European Journal of Medical Genetics, 2017

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Lonjou C et al.

Bmc Cancer, 2017

28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0EM-01A.domain

Association of host genetic risk factors with the course of cytomegalovirus retinitis in patients infected with human immunodeficiency virus.

Sezgin E et al.

American Journal of Ophthalmology, 2011

Effect of host genetics on the development of cytomegalovirus retinitis in patients with AIDS.

Sezgin E et al.

The Journal of Infectious Diseases, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeI-_

Tourette's syndrome is not associated with interleukin-10 receptor 1 variants on chromosome 11q23.3.

Kindler J et al.

Psychiatry Research, 2008

Associations of the IL2Ralpha, IL4Ralpha, IL10Ralpha, and IFN (gamma) R1 cytokine receptor genes with AIDS progression in a French AIDS cohort.

Do H et al.

Immunogenetics, 2006

Novel variants of the IL-10 receptor 1 affect inhibition of monocyte TNF-alpha production.

Gasche C et al.

Journal of Immunology (baltimore, Md. : 1950), 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."